Table 4.
CapIG-Seq detection of multiple genomic alterations in longitudinal/contemporaneous bone marrow and cfDNA in myeloma patients.
| Patient | Genomic alteration/marker | Clinical bone marrow FISH | Bone marrow sequencing | cfDNA contemporaneous samples | cfDNA follow-up 1 samples | cfDNA follow-up 2 samples | ||
|---|---|---|---|---|---|---|---|---|
| t(4;14) | t(11;14) | t(14;16) | ||||||
| Patient R | t(11;14) | Negative | Detected | Negative | Detected | Detected | ||
| IGHV3-66/D3-22/J5 | Detected (0.69) | |||||||
| IGLV2-23/J2 | Detected (0.8) | |||||||
| NRAS p.Q61K | Detected (0.58) | Detected (0.016) | ||||||
| FAM46C p.F274L | Detected (0.46) | Detected (0.0062) | ||||||
| LTB p.P75L | Detected (0.50) | Detected (0.43) | ||||||
| Patient S | t(4;14) | Detected | Negative | Negative | Detected | Detected | Detected | |
| IGKV1-37/J3 | Detected (0.61) | Detected (0.61) | Detected (0.82) | |||||
| IGKV1-5/J4 | Detected (0.11) | Detected (0.11) | Detected (0.12) | |||||
| KRAS p.A146T | Detected (0.19) | Detected (0.065) | ||||||
| FAM46C p.D150Y | Detected (0.23) | |||||||
| PRKD2 p.Y566C | Detected (0.65) | PRKD2 p.Y566C (0.040) | Detected (0.11) | |||||
| Patient T | No translocations detected | Negative | No translocations detected | |||||
| IGKV3-11/J3 | Detected (0.62) | Detected (0.55) | ||||||
| IGHV2-5/D3-3/J6 | Detected (0.21) | |||||||
| KRAS p.Q61H | Detected (0.047) | Detected (0.015) | ||||||
| PRDM1 p.P66S | Detected (0.39) | Detected (0.46) | ||||||
| Patient U | t(12;14) | Negative | t(12;14) | t(12;14) | t(12;14) | |||
| IGKV4-1/J2 | Detected (0.59) | Detected (0.04) | Detected (0.21) | |||||
| MAX p.R27W | Detected (0.90) | Detected (0.54) | Detected (0.65) | Sample failed for mutation calls | ||||
| KRAS p.G13D | Detected (0.080) | Detected (0.19) | Detected (0.091) | |||||
| CYLD p.G930G | Detected (0.017) | |||||||
| Patient V | t(12;14) | Negative | t(12;14) | t(12;14) | ||||
| IGKV1-39/J1 | Detected (0.68) | Detected (0.70) | ||||||
| IGKV4-1/J4 | Detected (0.29) | Detected (0.29) | ||||||
| KRAS p.G12V | Detected (0.45) | Sample fail for mutations | ||||||
| BRAF p.D594N | Detected (0.45) | |||||||
| Patient W | No translocations detected | Negative | No translocations detected | No translocations detected | ||||
| No V(D)J rearrangement found | ||||||||
| IDH1 p.F86I | Detected (0.091) | Detected (0.085) | Detected (0.089) | |||||
| ATR p.E650K | Detected (0.089) | Detected (0.094) | Detected (0.089) | |||||
| PIK3CA p.H59P | Detected (0.41) | Detected (0.38) | Detected (0.37) | |||||
| CYLD p.L135M | Detected (0.044) | |||||||
| CYLD p.G930G | Detected (0.045) | |||||||
| IKZF3 p.S88R | Detected (0.039) | |||||||
| Patient X | No translocations detected | Negative | No translocations detected | No translocations detected | ||||
| IGLV1-44/J2 | Detected (0.83) | Detected (0.0069) | Detected (0.0099) | |||||
| NRAS p.G13R (0.35) | Detected (0.35) | Detected (0.73) | ||||||
| FAM46C p.G37V (0.25) | Detected (0.25) | |||||||
| MAX p.R51W (0.72) | Detected (0.72) | |||||||
| Patient Y | No translocations detected | Negative | No translocations detected | No translocations detected | ||||
| IGKV3-20/J2 | Detected (0.55) | Detected (0.54) | ||||||
| EGR1 p.S42T | Detected (0.41) | Detected (0.34) | ||||||
| KRAS p.G13D | Detected (0.79) | Detected (0.48) | ||||||
| ZFHX4 p.P3167P | Detected (0.014) | |||||||
Concordance with bone marrow/clinical data
Found in bone marrow but not in cfDNA
Found in cfDNA and not in bone marrow
Not applicable/no sample.